RS117225135 DHTKD1

Health Risk Chr 10:12112929 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
2-aminoadipic 2-oxoadipic aciduria
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2A2
Tip-toe gait
Inborn disorder of lysine and hydroxylysine metabolism
DHTKD1-related disorder
2-aminoadipic 2-oxoadipic aciduria
Inborn genetic diseases
Charcot-Marie-Tooth disease type 2A2
Tip-toe gait
Inborn disorder of lysine and hydroxylysine metabolism
DHTKD1-related disorder
ClinVar Assertions (1)
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
· 24 submitters
Population Frequencies
gnomAD ALL
99.7%
1kG AFR
0.1%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
99.9%
1kG EUR
0.2%
1kG SAS
100%
Other Variants in DHTKD1
rs1564385081 rs397514534 rs606231237 rs200788729 rs770649540 rs1554791360 rs149066296 rs760386662 rs1335731178 rs200722918
Ask Dr. Hemsworth about this variant